Discussions By Condition: I cannot get a diagnosis.

In search of a diagnosis for my 4yr old son

I have a 4yr old son that goes undiagnosed. He has hypotonia, macrocephaly, clinodactyl, cafe au lait spots, seizures, and developmental delays. He has been tested for almost everything there is. If anyone knows of an exceptional doctor willing to help me in my search I would greatly appreciate it!

12 Replies:

Dear Lauren, I highly suggest NAET/Bioset therapy. Children are being cured from all types of ailments, including Autism. naet.com read the testimonial pages. I went to Bioset. My symptoms are gone. Please consider this for your child, it works!! best wishes, mommy cat

I have a 4yr old son that goes undiagnosed. He has hypotonia, macrocephaly, clinodactyl, cafe au lait spots, seizures, and developmental delays. He has been tested for almost everything there is. If anyone knows of an exceptional doctor willing to help me in my search I would greatly appreciate it! LaurenFloridaLook up info on the cafe aulait spots. Does he have more than 6?

Dear Lauren..Here is a link for NAET practicioners in your state. I didn't know where in Florida you lived so I sent you the state link. Consider this first, then go from there...mommy cat:) http://www.naet.com/subscribers/doctorResults.asp?FromQS=1&db=default&uid=default&City=&State=FL&Zip=&Last=&Country=&Status=on&sb=4&view_records=Search

Thanks for the info regarding therapy. The only information that comes up regarding cafe au lait spots is neurofibromatosis (sp?) and this I know for sure he doesn't have. The latest testing was for Bannayan Riley Syndrome but of course the results came back negative. I just wish there was a doctor out there willing to continue researching for a diagnosis for my son. It seems as though every doctor I go to runs a test for one thing and when it comes back negative they say, "well we will just follow him to see if he develops and other symptoms." It is so frustrating watching your child not hit their milestones and not knowing why... LaurenFlorida

Call your local hospital and ask for the library. There is a book called "Smith's Recognizable Patterns of Human Malformation." Most hospital libraries would either have this book or would know how to get it. If your child has clinodactyl of the fifth fingers (you didn't specify), I see about 40 genetic conditions associated with this. You could look at them all one by one to see if they fit your child's problems. You should definitely see a geneticist.

I agree with Aguila concerning the geneticist, but you have probably gone that route already? If you haven't, then please find a good one as most of your son's symptoms sound genetically based. I also agree with MommyCat's post concerning NAET and Bioset. This treatment is noninvasive, and has shown amazing differences in children. It is worth trying in my opinion, and you should notice a difference after just a few treatments. I doubt that allopathic docs have much to offer concerning treatment for your son, but please keep looking for the right geneticist who can give you a diagnosis. In the meantime consider alternative approaches to help with your son's symptoms. What was your pregnancy like and how was your labor? When did your son exhibit these symptoms - at birth or later? Did you breastfeed and if so for how long? What medications is your son taking? How often does he have seizures? Best wishesDOM

I did a quick search for you on this & you need to get in touch with these people, I think. An address is at the bottom of this post. http://www3.interscience.wiley.com/cgi-bin/abstract/110516099/ABSTRACT?CRETRY=1&SRETRY=0 Cut & paste the whole long address into your browser if the link doesn't work. An infant with deletion of the distal long arm of chromosome 15 (q26.1http://www3.interscience.wiley.com/giflibrary/18/rarr.gifqter) and loss of insulin-like growth factor 1 receptor geneEllen W. Roback 1, Amin J. Barakat 2, V. G. Dev 1, Majambu Mbikay 3, Michel Chrétien 3, Merlin G. Butler, M.D., Ph.D. 1 *1Division of Genetics, Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee2Department of Pediatrics, Georgetown University Medical Center, Washington, D.C.3Molecular Neuroendocrinology Laboratory, Clinical Research Institute of Montreal, Montreal, Canada*Correspondence to Merlin G. Butler, Division of Pediatrics, T-2404 Medical Center North, Vanderbilt University School of Medicine, Nashville, TN 37232-2578

It has been awhile since I have posted. In response to my pregnancy. I had a normal pregnancy and carried my son to 41 weeks. He was born 9lbs 14oz and healthy with the exceptions of a heart murmur. I did breastfeed for 5 months with no feeding problems. No labor I had a scheduled csection due to his large size.

I would get the schools involved and get him in pre-school, with all lthe psychological evaluations, speech and occupational therapy.. the schools have to provide it at no cost to you via Child Find, a Federal program.

Thanks for your kind response. My son has been attending school since before this third birthday thanks to the "NO CHILD LEFT BEHIND" act. He receives PT, OT, ST and swims once a week at school. This is what has helped him to get where he is. I am running out of luck with doctors here in Florida and will soon travel out of state in my quest for a diagnosis.

NCLB has nothing to do with why your child is receiving services. He is receiving services under IDEA and has already been identified as a child with a disability. It would appear, therefore, that you do have a diagnosis for your child since the school or specialists have agreed to the diagnosis. What I imagine you are looking for, is a developmental specialist doctor in your area. It sounds like a birth defect due to genetics. Perhaps a geneticist may help. Continue working with your school. They are the best source of information and support: http://en.wikipedia.org/wiki/Individuals_with_Disabilities_Education_Act The Individuals with Disabilities Education Act (IDEA) is a United States federal law that governs how states and public agences provide early intervention, special education, and related services to children with disabilities. It addresses the educational needs of children with disabilities from birth to the age of 21. The IDEA is considered to be a civil rights law.